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rs267608160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CTTC) 6 Lynch syndrome, pathogenic mutation
(CTTC;CTTC) 0 common in clinvar


Make rs267608160(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position5977669
GenePMS2
is asnp
is mentioned by
dbSNPrs267608160
dbSNP (classic)rs267608160
ClinGenrs267608160
ebirs267608160
HLIrs267608160
Exacrs267608160
Gnomadrs267608160
Varsomers267608160
LitVarrs267608160
Maprs267608160
PheGenIrs267608160
Biobankrs267608160
1000 genomesrs267608160
hgdprs267608160
ensemblrs267608160
geneviewrs267608160
scholarrs267608160
googlers267608160
pharmgkbrs267608160
gwascentralrs267608160
openSNPrs267608160
23andMers267608160
SNPshotrs267608160
SNPdbers267608160
MSV3drs267608160
GWAS Ctlgrs267608160
Max Magnitude6
ClinVar
Risk rs267608160(-;-)
Alt rs267608160(-;-)
Reference Rs267608160(CTTC;CTTC)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome
Variation info
Gene PMS2
CLNDBN Turcot syndrome Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6017300_6017303delGAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009817.3, RCV000076853.2,